PC c.2120C>T ;(p.T707M)

Variant ID: 11-66618614-G-A

NM_001040716.1(PC):c.2120C>T;(p.T707M)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Frontiers In Oncology
Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C
Publication Date: 2022

Variant appearance in text: PC: 2120C>T; T707M
PubMed Link: 36387164
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

Plos Genetics
Kohda, Masakazu M; Tokuzawa, Yoshimi Y; Kishita, Yoshihito Y; Nyuzuki, Hiromi H; Moriyama, Yohsuke Y; Mizuno, Yosuke Y; Hirata, Tomoko T; Yatsuka, Yukiko Y; Yamashita-Sugahara, Yzumi Y; Nakachi, Yutaka Y; Kato, Hidemasa H; Okuda, Akihiko A; Tamaru, Shunsuke S; Borna, Nurun Nahar NN; Banshoya, Kengo K; Aigaki, Toshiro T; Sato-Miyata, Yukiko Y; Ohnuma, Kohei K; Suzuki, Tsutomu T; Nagao, Asuteka A; Maehata, Hazuki H; Matsuda, Fumihiko F; Higasa, Koichiro K; Nagasaki, Masao M; Yasuda, Jun J; Yamamoto, Masayuki M; Fushimi, Takuya T; Shimura, Masaru M; Kaiho-Ichimoto, Keiko K; Harashima, Hiroko H; Yamazaki, Taro T; Mori, Masato M; Murayama, Kei K; Ohtake, Akira A; Okazaki, Yasushi Y
Publication Date: 2016-01

Variant appearance in text: PC: 2120C>T; T707M
PubMed Link: 26741492
Variant Present in the following documents:
  • Main text
  • pgen.1005679.pdf
  • pgen.1005679.s025.xlsx, sheet 1
  • pgen.1005679.s021.xlsx, sheet 2
View BVdb publication page